I want to tell our story because more than year my child (only 2 years) and me're suffering from unknown disease and I don't know what to do and where to go. I'll be really thankful if someone can help or give an advice. Please excuse my English, I'm from Eastern Europe and it's hard to explain all this medical terms.
I'll try to explain our state, our medical tests and egzaminations.
I 've always been a generally healthy person untill 2003 /one year before
I got pregnant/. I think the story of our illness began than when after a flu I couldn't recover. During 5-6 months I had intensive night sweats, every day temperature 37.2 C-37.7 C, sudden blushes, muscle and joint pain, nose discomfort and secretions, ressembled allergic rinithis, a limph node on the neck, pale face with dark cirkles under the eyes, swelling of the outlet of the salivary gland in the mouth (one of the very first sympthoms), which stayed for 5-6 months. I made tests for many viruses, parasites, tuberculosis - all negative. Microbiology of the nose secretions was normal. Autoimmunity disorders were rejected. My blood tests were normal, the only indicator of inflammation was in plt 450-500. I hadn't cough but the X-ray of my lung looked strange. There were doubts about intersticial pneumonia. I took withought result 5 antibiotics - Cefalexin and Duracef for the flu, Rodogyl for the nose sympthoms, Doxicyclin, Zinat and Klacid for suspected pneumonia. Seeing the doctors could't work out a diagnosis, I decided to go on a long holiday, then returned to work and with the time I got better and completely healthy again. Comletely exept my nose problems and appeared lips and mouth ulcers.
My daughter was born a year later (october 2004). On the 3-th day after birth (after BCG vacsination) I noticed she had nose secretions just like me, which have always been a serious problem. Microbiology of secretion has always been normal, Ig E for allergy too.
When sher was nearly1 years old, a month after a virus infection I noticed an occipital big lymph node and for 4-5 months temperature of 37.1-37.2 C at lunch time and intensive night sweats.
In February 2006 my daughter again had a flu and couldn't recover. The permanent symptoms were of low fever (up to 37.7 degrees), night sweats, new swollen and painfil lymph nodes behind the ears, 5-6 months later nodes on the body too - under the armpit and legs, swelling of the outlet of the salivary gland /may be the first symptom when she looked healthy/, pale face, dark circles under eyes, mouth and lips ulcers. Since May 2006 she has very often strange feces like diarrhoea. Since September 2006, she has had pink eyes, feeling of sand in the eyes and pain in the joints. She has 2 white spots in her body and I think there's a tendency to appear another one.
My daughter was treated with Cefzil, Augmentin, Clindamicyn, Sumetrolim, Doxicyclin and Isoprinosin, they didn't help.
Since June 2006 have no doubt I'm sick from the same disease like my daughter and like me before. The same sympthoms - swelling of the outlet of the salivary gland in the mouth, fever 37.2-37.3 C, muscles and joint aches, little red throat and ears /in the beginning/ and sudden face blushes. Two months later the first lymph node on the neck appeared, four-five months later I developed the enlarged lymph nodes behind the ears, the same strange feces, eye sympthoms, muscles and joint pain, small lymph nodes under the armpit and legs, feeling of needle in my body and from January of small knives under skin and a small hole on the hand under the skin appeared /the doc. said I miss fat tissue on the same place/. Feeling of the sunburned skin mostly on the face, back and hands, a pink-brown spot on the hand, and thick fingers with hard movement especially in the area of the joints. My mother begin with the same sympthoms. My husband complained sunburned skin .
This "strange infection" made us spend the last year in making tests for
many infectious diseases, we investigate Adeno viruses, Enteroviruses and
Coxsackie, EBV, CMV, HIV,Parvovirus B19, HBsAg, HCV, syphilis, Yersinia
Enterocolitica, Brucellosis, Tularemia, Erlichia, Listeria, Leptospirosis,
Micoplasma, Chlamidia psitaci, Chlamidia trahomatis, Toxoplazmosis,
Toxocarosis, Trihinelosis, Ascaridosis, ASLO titers, Q fever, Candida,
Aspergilus, "Quantiferon" and TB spot tests for TB but the results were
all negative.There were results concerning my daughter's cellular immunity and NBT test (nitroblue tetrazolim test, which measure fagocytic activity) that were not normal - 47% and made two doctors /heamotologists/ doubt it was a rare
chronic granulomatous disease of the childhood. I sent to a professor from Immunodeficiency Center in Berlin, my daughter's tests results who said my daughter doesn't have primary immunodeficiency and she is ill from disease that suppressed her cellular immunity.
We investigate tuberculosis infection, because my mother and I had had possitive skin test for Micobacterium Bovis (20 mm and 10mm)a. But all the cultures (sputum, feces, urine and blood) and TB-spot test and Quantiferon test were negative for micobacteria. We made a CT scan of the lungs and the abdomen and all were normal. But we had a month treatment for tuberculosis (Tubocin, Etambutol, Isonid) untill we were waiting for all the results for TB and I saw it help but not enough.
The specialist of patologyc anatomy who egzamin my node told me I have something that looks like vasculitis, but unknown for him and probably seconday. I don't have autoimmunity disorder (my ANA, ANCA and Anti-Sm/RNP tests are normal). The second specialist told me we could have disorder in the phagocytic system, something with macrophagies. The third specialist doubts about micobacteria.
Here are their descriptions:
> 1.Slightly enlarged lymph node with preserved structure. The lymph
follicles and the sinuses are outlined. The cellular composition consists of
> lymphocytes, scanty plasmocytes and epithelium-like cells. Certain
> proliferation of blood vessels is witnessed, some of which are with
> thickened wall. Capillaries are witnessed with hyalinized walls and
> partially or fully obliterated lumen.
> CONCLUSION: The most significant witnessed changes are of the blood
vessels, which gives reasons to consider vasculitis with hialinization of small
> vessels with no recent inflammatory alteration of the walls. The finding
> does not allow for nosological definition of the process.
> 2. The observed picture in the ready-made preparations and in the
additional sections and the special staining (Perls, van Kosa and Cil-Nilson) gives
ground for evaluation as a reactive process. There is certain restructuring
of the lymph node architectonics with development of many secondary lymph
follicles and considerable monocyte-histiocyte proliferation with expressed
> phagocytary activity (haemosiderin, calcium, protein matter, and at some
> points-erythrophagia. There is slight hyperplasia of the post-cappilary
> venules. Some vessels are with expressed celless sclerosis and resemble
> Hasalian bodies. The node capsule is fibrously thickened).
> The finding ressemles changes typical for dermatopathic lymphadenitis. It
is desirable to look for deviations in the monocyte-phagocytic system
> (immunological and cytological) and if other larger lymph node is
available, second biopsy test should be undertaken.
> 3. Preserved structure of the lymph node with observed vasculitis.
Affected are small and medium-sized blood vessels. In the special microscopy
staining (Aurin-Rodamin) in these vessels are seen moderate number of objects
shining like micobacteria.
> At the end I want to summarize our test results:
> 1. suppressed cellular imunity (T- and B -limphocytes and NK, CD4/CD8 always more than 3,2 more than twice upon the normal range),
> 2. not normal proliferation of T-limphocytes, not responding of stimulation with gamma interferon, interleukin and others
> 3. possitive NBT - test/few times, the last is normal/,
> 4. twice positive skin test (mantou) for M. Bovis in my mother and me
> 5. negative blood tests (Quantiferon and TB-spot) for tuberculossis,
> 6. possitive PPD for M.Bovis and M. Tuberculosis,
> 7. normal blood tests (exept evaluated PLT- about 500),
> 8. normal CRP (C-reactive protein),
> 9. evaluated circulizing immunity complexes for a long time
> 10. my daughter has evaluated CPK and FFAA.
> 11. normal scan of the lungs and abdomen
12. Normal immunoglobulines
Our permanent sympthoms are:
> 1."Needles" under the skin of the whole body and fat tissue missing,
> 2. Painful lymph nodes on the head (on the neck and behind the ears) and
on the body - under the armpit and legs,
> 3. Temperature between 37.2 C- 37.7 C (in me and the child),
> 4. Pale face with dark cirkles under the eyes
> 5. Pink eyes, sympthoms like conjuctivitis, feeling that you have sand or
> soap in the eyes and small blood shots
> 6. problems with nose mucosa and secretions
> 7. after the 6-th month of the begining changes in feces (often something like diarrhoea)
> 8. Mouth and lips ulcers
> 9. Sudden blushes of the face
> 10. Slow pain in the joints and bones
> 11. Pain in the muscles
> 12. Thick fingers of the hands and hard movement in the joint area
> 13. Dry and sunburned-like skin
> 14. Pink-brown spot on my hand (from 3 months now) and 2 white spots
> on the child's body (one of them is not small white area).
15. Pink-violet areas on the skin of the finger's joints on the hands
16. very, very small white round spots on my mother's hand.
Thank you in advance,